Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19145 | 57658;57659;57660 | chr2:178597649;178597648;178597647 | chr2:179462376;179462375;179462374 |
| N2AB | 17504 | 52735;52736;52737 | chr2:178597649;178597648;178597647 | chr2:179462376;179462375;179462374 |
| N2A | 16577 | 49954;49955;49956 | chr2:178597649;178597648;178597647 | chr2:179462376;179462375;179462374 |
| N2B | 10080 | 30463;30464;30465 | chr2:178597649;178597648;178597647 | chr2:179462376;179462375;179462374 |
| Novex-1 | 10205 | 30838;30839;30840 | chr2:178597649;178597648;178597647 | chr2:179462376;179462375;179462374 |
| Novex-2 | 10272 | 31039;31040;31041 | chr2:178597649;178597648;178597647 | chr2:179462376;179462375;179462374 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs775238770  |
-0.393 | 0.997 | N | 0.719 | 0.45 | 0.316494231283 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 5.81E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs775238770 |
-0.393 | 0.997 | N | 0.719 | 0.45 | 0.316494231283 | gnomAD-4.0.0 | 2.05323E-06 | None | None | None | None | N | None | 0 | 6.71411E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs2154189870 |
None | 0.989 | N | 0.472 | 0.267 | 0.165133752707 | gnomAD-4.0.0 | 3.18474E-06 | None | None | None | None | N | None | 5.66123E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85992E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3062 | likely_benign | 0.3103 | benign | -0.888 | Destabilizing | 0.98 | D | 0.467 | neutral | None | None | None | None | N |
| S/C | 0.4342 | ambiguous | 0.4399 | ambiguous | -0.591 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.466024916 | None | None | N |
| S/D | 0.9803 | likely_pathogenic | 0.9817 | pathogenic | -0.119 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| S/E | 0.9818 | likely_pathogenic | 0.979 | pathogenic | -0.128 | Destabilizing | 0.997 | D | 0.577 | neutral | None | None | None | None | N |
| S/F | 0.811 | likely_pathogenic | 0.8262 | pathogenic | -1.22 | Destabilizing | 0.99 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/G | 0.5341 | ambiguous | 0.5359 | ambiguous | -1.107 | Destabilizing | 0.996 | D | 0.471 | neutral | N | 0.462822228 | None | None | N |
| S/H | 0.8942 | likely_pathogenic | 0.8916 | pathogenic | -1.652 | Destabilizing | 0.995 | D | 0.721 | prob.delet. | None | None | None | None | N |
| S/I | 0.8239 | likely_pathogenic | 0.8271 | pathogenic | -0.409 | Destabilizing | 0.997 | D | 0.717 | prob.delet. | N | 0.454415121 | None | None | N |
| S/K | 0.9941 | likely_pathogenic | 0.994 | pathogenic | -0.579 | Destabilizing | 0.992 | D | 0.575 | neutral | None | None | None | None | N |
| S/L | 0.5998 | likely_pathogenic | 0.617 | pathogenic | -0.409 | Destabilizing | 0.983 | D | 0.621 | neutral | None | None | None | None | N |
| S/M | 0.7264 | likely_pathogenic | 0.7273 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/N | 0.8446 | likely_pathogenic | 0.843 | pathogenic | -0.514 | Destabilizing | 0.996 | D | 0.581 | neutral | N | 0.478122541 | None | None | N |
| S/P | 0.9931 | likely_pathogenic | 0.9947 | pathogenic | -0.537 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | None | None | None | None | N |
| S/Q | 0.947 | likely_pathogenic | 0.9395 | pathogenic | -0.704 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/R | 0.9853 | likely_pathogenic | 0.9844 | pathogenic | -0.528 | Destabilizing | 0.997 | D | 0.719 | prob.delet. | N | 0.486262022 | None | None | N |
| S/T | 0.3442 | ambiguous | 0.3485 | ambiguous | -0.589 | Destabilizing | 0.989 | D | 0.472 | neutral | N | 0.489667687 | None | None | N |
| S/V | 0.776 | likely_pathogenic | 0.7813 | pathogenic | -0.537 | Destabilizing | 0.995 | D | 0.685 | prob.neutral | None | None | None | None | N |
| S/W | 0.8777 | likely_pathogenic | 0.8806 | pathogenic | -1.146 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| S/Y | 0.745 | likely_pathogenic | 0.7514 | pathogenic | -0.884 | Destabilizing | 0.643 | D | 0.471 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.